A5017764037- Scoliosis diagnosis and treatment
- Connective tissue disorders research
- TGF-β signaling in diseases
- RNA modifications and cancer
- Spine and Intervertebral Disc Pathology
- Celiac Disease Research and Management
- Cancer-related molecular mechanisms research
- Ear Surgery and Otitis Media
- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- Helicobacter pylori-related gastroenterology studies
- Asthma and respiratory diseases
- interferon and immune responses
- Microscopic Colitis
- Monoclonal and Polyclonal Antibodies Research
- Pediatric health and respiratory diseases
- RNA regulation and disease
- Congenital heart defects research
- Reading and Literacy Development
- Genomics and Chromatin Dynamics
- NF-κB Signaling Pathways
- Skin and Cellular Biology Research
- IL-33, ST2, and ILC Pathways
- Cell Adhesion Molecules Research
- Genomics and Phylogenetic Studies
KTH Royal Institute of Technology
2019-2025
Science for Life Laboratory
2019-2025
Karolinska Institutet
2015-2023
University of Helsinki
2010-2022
Folkhälsans Forskningscentrum
2016-2021
Beijing Institute of Optoelectronic Technology
2020
National Institute of Occupational Health
2005-2018
Institute for Molecular Medicine Finland
2008
Umeå University
2003-2007
deCODE Genetics (Iceland)
2002
Identification of genes associated with pain insensitivity syndromes can increase the understanding pathways involved in and contribute to how sensory relate other neurological functions. In this report we describe mapping identification gene responsible for loss deep perception a large family from northern Sweden. The is characterized by impairment sensing temperature but normal mental abilities most responses intact. A severe reduction unmyelinated nerve fibers moderate thin myelinated are...
How can we study the full transcriptome of endometrial stromal and epithelial cells at single-cell level?By compiling developing novel analytical tools for biopsy, tissue cryopreservation disaggregation, sorting, library preparation, RNA sequencing (RNA-seq) statistical data analysis.Although analyses from various biopsied tissues have been published recently, corresponding protocols human endometrium not described.The frozen-thawed biopsies were fluorescence-activated cell sorted (FACS) to...
Homozygosity for a nonsense mutation in the fucosyltransferase 2 ( FUT2 ) gene rs601338G >A) leads to absence of ABH blood groups non‐secretor status) body fluids. As secretor status has been shown be major determinant gut microbial spectrum, assumed important immune homeostasis, we studied association rs601338‐ with celiac disease CelD and inflammatory bowel IBD Finnish population. Rs601338 was genotyped n = 909), dermatitis herpetiformis DH 116), ulcerative colitis UC 496) Crohn's CD...
There is a great need to identify factors that could protect pancreatic beta cells against apoptosis or stimulate their replication and thus prevent reverse the development of diabetes. One potential candidate mesencephalic astrocyte-derived neurotrophic factor (MANF), an endoplasmic reticulum (ER) stress inducible protein. Manf knockout mice used as model diabetes develop condition because increased reduced proliferation cells, apparently related ER stress. Given this novel association...
Lupus erythematosus (LE) is a heterogeneous disease ranging from skin-restricted manifestations to progressive multisystem disease. The specific skin lesions include chronic cutaneous, subacute cutaneous and acute LE. Both genetic environmental factors are involved in the development of However, reports on background lupus (CLE) forms, namely discoid (DLE) (SCLE), sparse. We investigated whether known systemic LE (SLE) susceptibility genes also predispose CLE. Altogether, 219 Finnish...
Abstract Background Association of the interleukin-23 receptor ( IL23R ) with inflammatory bowel disease (IBD) has been confirmed in several populations. also associates psoriasis, suggesting that gene may be an important candidate for many chronic diseases. Methods We studied association single-nucleotide variants IBD Swedish patients, both Crohn's (CD) and ulcerative colitis (UC) subsets. The same genetic were Finnish patients psoriasis or celiac disease, Hungarian Italian disease. Results...
Crohn's disease (CD) and ulcerative colitis (UC), 2 major forms of inflammatory bowel (IBD), are complex disorders with significant genetic predisposition. The first CD-associated gene, CARD15/NOD2, was recently identified since then several reports on novel IBD candidate genes have emerged. We investigated phenotype association to variations in IL23R, ATG16L1, DLG5, ABCB1/MDR1, TLR4, TNFRSF1A, chromosome 5 risk haplotype including SLC22A4 SLC22A5, HLA-DRB1*0103 allele among Finnish...
Background: Common variable immunodeficiency (CVID) is the most common primary immunodeficiency. Prevalence varies greatly between countries and studies. Most diagnostic criteria include hypogammaglobulinemia impaired vaccine response. Aim: To evaluate minimum prevalence as well clinical immunological phenotypes of CVID in Southern Finland. Methods: We performed a cross-sectional study to assess all adult patients followed-up three hospital districts South-Eastern Finland April 2007 August...
As estrogen receptor β-/- (ERβ-/-) mice age, the ventral prostate (VP) develops increased numbers of hyperplastic, fibroplastic lesions and inflammatory cells. To identify genes involved in these changes, we used RNA sequencing immunohistochemistry to compare gene expression profiles VP young (2-mo-old) aging (18-mo-old) ERβ-/- their WT littermates. We also treated old with an ERβ-selective agonist evaluated protein expression. The most significant findings were that ERβ down-regulates...
Upon binding to pathogen or self-derived cytosolic nucleic acids cyclic GMP-AMP synthase (cGAS) triggers the production of cGAMP that further activates transmembrane protein STING. activation STING translocates from ER via Golgi vesicles. Monogenic gain-of-function mutations cause early-onset type I interferonopathy, with disease presentation ranging fatal vasculopathy mild chilblain lupus. Molecular mechanisms underlying variable phenotype-genotype correlation are presently unclear. Here,...
Abstract PAIRED (PRD)-like homeobox genes belong to a class of predicted transcription factor genes. Several these PRD-like have been in silico from genomic sequence but until recently had no evidence transcript expression. We found that nine genes, ARGFX , CPHX1 CPHX2 DPRX DUXA DUXB NOBOX, TPRX1 and TPRX2 were expressed human preimplantation embryos. In the current study we characterized depth studied their functions as factors. cloned multiple variants embryos showed expression is specific...
// Magnus Tobiasson 1, * , Hani Abdulkadir Andreas Lennartsson 2 Shintaro Katayama Francesco Marabita 3, 4 Ayla De Paepe 1 Mohsen Karimi Kaarel Krjutskov 2, 5, 6 Elisabet Einarsdottir 5 Michael Grövdal Monika Jansson Asmaa Ben Azenkoud Lina Corddedu Sören Lehmann 7 Karl Ekwall Juha Kere Eva Hellström-Lindberg and Johanna Ungerstedt Center for Hematology Regenerative Medicine, Department of Medicine Huddinge, Division Karolinska Institutet, University Hospital Sweden Biosciences Nutrition,...
BackgroundCCAAT enhancer–binding protein epsilon (C/EBPε) is a transcription factor involved in late myeloid lineage differentiation and cellular function. The only previously known disorder linked to C/EBPε autosomal recessive neutrophil-specific granule deficiency leading severely impaired neutrophil function early mortality.ObjectiveThe aim of this study was molecularly characterize the effects Arg219His mutation identified Finnish family with genetically uncharacterized autoinflammatory...
Abstract The European green toad (Bufotes viridis) is geographically widely distributed. While the species global conservation status labeled as of least concern by IUCN, it declining in many parts its range where populations are fragmented and isolated. A high-quality reference genome an important resource for genomic researchers who trying to understand interpret signals population decline, inbreeding, accumulation deleterious mutations. Here, we assembled annotated a chromosome-level B....
To study the influence of female hormonal factors on development rheumatoid arthritis (RA) in relation to human leucocyte antigen (HLA)-DRB1 shared epitope (SE), protein tyrosine phosphatase (PTPN22) 1858T variant, anti-citrullinated antibodies (ACPAs), and immunoglobulin (Ig)M-rheumatoid factor (IgM-RF).A case-control (1:4) was nested within Medical Biobank northern Sweden. Females who had subsequently developed RA (n = 70), median 2.7 years before onset symptoms, matched controls 280) were...
The transcriptome analysis of whole-blood RNA by sequencing holds promise for the identification and tracking biomarkers; however, high globin mRNA (gmRNA) content erythrocytes hampers buffy coat analyses. We introduce a novel gmRNA locking assay (GlobinLock, GL) as robust simple reduction tool to preserve quality, save time cost. GL consists pair gmRNA-specific oligonucleotides in initial denaturation buffer that is effective immediately after adds only ten minutes incubation whole cDNA...
Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them locus on chromosome 6q24.1 that we by GWAS in Japanese cohort. The represented rs6570507 located within GPR126. To ensure AIS, conducted meta-analysis using eight cohorts from East Asia, Northern Europe USA. analysis included total 6,873 cases 38,916 controls...